ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)

gnomAD frequency: 0.00015  dbSNP: rs544816408
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000407481 SCV000342119 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559267 SCV000649957 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000407481 SCV001475410 uncertain significance not provided 2020-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000407481 SCV002008407 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24282183)
Revvity Omics, Revvity RCV000407481 SCV003811727 uncertain significance not provided 2020-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277250 SCV001464158 uncertain significance Muscle eye brain disease 2020-03-17 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816507 SCV005071222 uncertain significance Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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